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Article

Novel mechanisms of trafficking defect caused by KCNQ1 mutations found in long QT syndrome.

The Journal of biological chemistry - 11 Dec 2009

Sato Akinori, Arimura Takuro, Makita Naomasa, Ishikawa Taisuke, Aizawa Yoshiyasu, Ushinohama Hiroya, Aizawa Yoshifusa, Kimura Akinori

Abstract excerpt

Long QT syndrome (LQTS) is a hereditary arrhythmia caused by mutations in genes for cardiac ion channels, including a potassium channel, KvLQT1. Inheritance of LQTS is usually autosomal-dominant, but autosomal-recessive inheritance can be observed in patients with LQTS accompanied by hearing loss. In this study, we investigated the functional alterations caused by KCNQ1 mutations, a deletion (delV595) and a...

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Identifiers

PMID: 19825999
DOI: 10.1074/jbc.M109.017293
PMCID: PMC2787373

Genes

KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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